Incidental Mutation 'R7707:Ap3b2'
| ID |
594347 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ap3b2
|
| Ensembl Gene |
ENSMUSG00000062444 |
| Gene Name |
adaptor-related protein complex 3, beta 2 subunit |
| Synonyms |
Naptb, beta3B |
| MMRRC Submission |
067893-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R7707 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
81110147-81143673 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 81126530 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 357
(V357I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080739
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082090]
[ENSMUST00000152355]
|
| AlphaFold |
Q9JME5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000082090
AA Change: V357I
PolyPhen 2
Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000080739
Gene: ENSMUSG00000062444
AA Change: V357I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Adaptin_N
|
34 |
590 |
8.2e-182 |
PFAM |
|
low complexity region
|
689 |
782 |
N/A |
INTRINSIC |
|
AP3B1_C
|
801 |
947 |
4.58e-75 |
SMART |
|
Blast:B2
|
971 |
1080 |
2e-12 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152355
AA Change: V357I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
99% (72/73) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Adaptor protein complex 3 (AP-3 complex) is a heterotrimeric protein complex involved in the formation of clathrin-coated synaptic vesicles. The protein encoded by this gene represents the beta subunit of the neuron-specific AP-3 complex and was first identified as the target antigen in human paraneoplastic neurologic disorders. The encoded subunit binds clathrin and is phosphorylated by a casein kinase-like protein, which mediates synaptic vesicle coat assembly. Defects in this gene are a cause of early-onset epileptic encephalopathy. [provided by RefSeq, Feb 2017]
PHENOTYPE: Disruption does not alter pigmentation, but causes hyperactivity and tonic-clonic seizures and mice homozygous for a knock-out allele were found to have significantly reduced synaptic zinc levels throughout the brain, with the largest reduction observed in the CA1 stratum oriens. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
T |
A |
5: 113,285,852 (GRCm39) |
M1L |
probably benign |
Het |
| Ap1s3 |
T |
C |
1: 79,591,964 (GRCm39) |
K129E |
probably benign |
Het |
| Aplp1 |
A |
T |
7: 30,142,523 (GRCm39) |
C140S |
probably damaging |
Het |
| Arhgef1 |
G |
A |
7: 24,616,306 (GRCm39) |
D317N |
probably damaging |
Het |
| Asb4 |
A |
G |
6: 5,430,968 (GRCm39) |
H401R |
probably benign |
Het |
| Bpi |
A |
T |
2: 158,103,093 (GRCm39) |
E79D |
probably benign |
Het |
| Cant1 |
C |
T |
11: 118,301,724 (GRCm39) |
V198M |
possibly damaging |
Het |
| Casp9 |
C |
T |
4: 141,532,778 (GRCm39) |
R225C |
probably benign |
Het |
| Ccdc88b |
C |
A |
19: 6,834,837 (GRCm39) |
R82L |
probably benign |
Het |
| Cfap251 |
A |
T |
5: 123,391,950 (GRCm39) |
E28V |
probably benign |
Het |
| Chrm4 |
A |
G |
2: 91,757,699 (GRCm39) |
T36A |
probably benign |
Het |
| Cntln |
A |
T |
4: 84,802,853 (GRCm39) |
D51V |
probably damaging |
Het |
| Commd8 |
A |
T |
5: 72,320,081 (GRCm39) |
F120Y |
probably damaging |
Het |
| Cpne6 |
A |
C |
14: 55,753,771 (GRCm39) |
T410P |
probably damaging |
Het |
| Ctnnb1 |
A |
T |
9: 120,781,931 (GRCm39) |
I315F |
possibly damaging |
Het |
| Dnah9 |
A |
G |
11: 66,009,784 (GRCm39) |
V701A |
probably damaging |
Het |
| Efcab9 |
A |
G |
11: 32,472,851 (GRCm39) |
Y199H |
possibly damaging |
Het |
| Endou |
T |
A |
15: 97,610,983 (GRCm39) |
|
probably null |
Het |
| Fhip1a |
A |
G |
3: 85,583,560 (GRCm39) |
V412A |
probably benign |
Het |
| Foxc2 |
C |
T |
8: 121,844,641 (GRCm39) |
P430S |
probably benign |
Het |
| Gas2l3 |
T |
A |
10: 89,250,220 (GRCm39) |
K299N |
probably damaging |
Het |
| Gm10375 |
G |
A |
14: 43,842,332 (GRCm39) |
Q133* |
probably null |
Het |
| Gorab |
T |
C |
1: 163,220,009 (GRCm39) |
D211G |
probably damaging |
Het |
| Grin3b |
T |
A |
10: 79,811,735 (GRCm39) |
S747T |
possibly damaging |
Het |
| Gucd1 |
C |
A |
10: 75,347,120 (GRCm39) |
|
probably benign |
Het |
| Gucy2d |
T |
C |
7: 98,100,876 (GRCm39) |
F400L |
possibly damaging |
Het |
| Hivep3 |
G |
A |
4: 119,591,156 (GRCm39) |
V55M |
|
Het |
| Igsf3 |
A |
G |
3: 101,367,238 (GRCm39) |
N1157S |
probably benign |
Het |
| Irak3 |
A |
T |
10: 119,982,489 (GRCm39) |
D324E |
probably damaging |
Het |
| Jup |
G |
T |
11: 100,273,878 (GRCm39) |
A221D |
possibly damaging |
Het |
| Kctd17 |
CAGCTGGAGGAGC |
CAGC |
15: 78,321,113 (GRCm39) |
|
probably benign |
Het |
| Lgr4 |
A |
G |
2: 109,827,936 (GRCm39) |
|
probably null |
Het |
| Lrrc34 |
T |
C |
3: 30,679,041 (GRCm39) |
D352G |
probably benign |
Het |
| Metrn |
C |
A |
17: 26,014,384 (GRCm39) |
A175S |
probably benign |
Het |
| Nr2c1 |
T |
A |
10: 94,024,027 (GRCm39) |
S411T |
probably benign |
Het |
| Or4c11 |
A |
G |
2: 88,695,153 (GRCm39) |
D68G |
possibly damaging |
Het |
| Or5h22 |
T |
A |
16: 58,894,634 (GRCm39) |
I270F |
possibly damaging |
Het |
| Orc3 |
T |
A |
4: 34,598,691 (GRCm39) |
K172* |
probably null |
Het |
| Oxnad1 |
A |
G |
14: 31,823,965 (GRCm39) |
|
probably null |
Het |
| Pcdh7 |
A |
G |
5: 57,877,672 (GRCm39) |
N409S |
probably damaging |
Het |
| Pcdha11 |
A |
T |
18: 37,144,845 (GRCm39) |
N312I |
probably benign |
Het |
| Pds5a |
G |
T |
5: 65,767,476 (GRCm39) |
P121Q |
unknown |
Het |
| Phc1 |
A |
G |
6: 122,300,739 (GRCm39) |
I380T |
unknown |
Het |
| Phldb3 |
C |
A |
7: 24,326,022 (GRCm39) |
H535N |
possibly damaging |
Het |
| Proser3 |
T |
C |
7: 30,239,216 (GRCm39) |
Q600R |
probably benign |
Het |
| Ptprz1 |
A |
G |
6: 23,002,295 (GRCm39) |
M1462V |
probably benign |
Het |
| Pyroxd2 |
T |
C |
19: 42,726,586 (GRCm39) |
T243A |
probably damaging |
Het |
| Ralgapa1 |
C |
A |
12: 55,824,077 (GRCm39) |
D268Y |
probably null |
Het |
| Rapgef5 |
A |
C |
12: 117,679,079 (GRCm39) |
Y419S |
probably damaging |
Het |
| Rbm24 |
C |
A |
13: 46,582,605 (GRCm39) |
Q175K |
possibly damaging |
Het |
| Robo4 |
A |
T |
9: 37,324,418 (GRCm39) |
D982V |
probably damaging |
Het |
| Sbf2 |
T |
C |
7: 109,929,920 (GRCm39) |
|
probably null |
Het |
| Serping1 |
A |
T |
2: 84,604,043 (GRCm39) |
|
probably null |
Het |
| Shank1 |
C |
T |
7: 43,993,725 (GRCm39) |
S798F |
unknown |
Het |
| Slc15a5 |
A |
T |
6: 138,056,745 (GRCm39) |
M57K |
probably damaging |
Het |
| Slc35g1 |
T |
A |
19: 38,391,571 (GRCm39) |
C284* |
probably null |
Het |
| Src |
G |
A |
2: 157,306,578 (GRCm39) |
D194N |
probably damaging |
Het |
| Srfbp1 |
A |
G |
18: 52,616,726 (GRCm39) |
T84A |
probably damaging |
Het |
| Sspo |
A |
T |
6: 48,438,461 (GRCm39) |
T1510S |
probably benign |
Het |
| Taar1 |
A |
T |
10: 23,797,135 (GRCm39) |
I278F |
possibly damaging |
Het |
| Taf1a |
T |
C |
1: 183,185,583 (GRCm39) |
Y281H |
possibly damaging |
Het |
| Thbs3 |
A |
T |
3: 89,132,207 (GRCm39) |
Y798F |
possibly damaging |
Het |
| Tnpo1 |
T |
C |
13: 99,027,295 (GRCm39) |
T7A |
probably benign |
Het |
| Traf7 |
A |
T |
17: 24,729,683 (GRCm39) |
|
probably null |
Het |
| Trbv19 |
G |
A |
6: 41,155,547 (GRCm39) |
V9I |
possibly damaging |
Het |
| Trim17 |
C |
T |
11: 58,856,110 (GRCm39) |
Q56* |
probably null |
Het |
| Ttn |
G |
T |
2: 76,732,406 (GRCm39) |
A4643E |
unknown |
Het |
| Ugt2b36 |
A |
G |
5: 87,229,367 (GRCm39) |
|
probably null |
Het |
| Uso1 |
A |
G |
5: 92,349,795 (GRCm39) |
*960W |
probably null |
Het |
| Usp2 |
G |
T |
9: 43,984,757 (GRCm39) |
|
probably null |
Het |
| Wdr20rt |
A |
G |
12: 65,272,981 (GRCm39) |
D148G |
probably damaging |
Het |
| Wif1 |
T |
C |
10: 120,919,864 (GRCm39) |
F204L |
probably damaging |
Het |
| Wwp1 |
T |
C |
4: 19,627,645 (GRCm39) |
D750G |
probably benign |
Het |
| Zfp1006 |
A |
T |
8: 129,945,660 (GRCm39) |
C388* |
probably null |
Het |
| Zmynd12 |
A |
T |
4: 119,302,063 (GRCm39) |
D234V |
probably damaging |
Het |
|
| Other mutations in Ap3b2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00772:Ap3b2
|
APN |
7 |
81,121,697 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01695:Ap3b2
|
APN |
7 |
81,126,687 (GRCm39) |
splice site |
probably benign |
|
|
IGL01876:Ap3b2
|
APN |
7 |
81,123,602 (GRCm39) |
splice site |
probably null |
|
|
IGL02132:Ap3b2
|
APN |
7 |
81,110,746 (GRCm39) |
missense |
unknown |
|
|
IGL02227:Ap3b2
|
APN |
7 |
81,123,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02660:Ap3b2
|
APN |
7 |
81,115,446 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0045:Ap3b2
|
UTSW |
7 |
81,115,941 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0045:Ap3b2
|
UTSW |
7 |
81,115,941 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0142:Ap3b2
|
UTSW |
7 |
81,122,828 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0317:Ap3b2
|
UTSW |
7 |
81,113,429 (GRCm39) |
splice site |
probably null |
|
|
R0568:Ap3b2
|
UTSW |
7 |
81,114,377 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1035:Ap3b2
|
UTSW |
7 |
81,113,659 (GRCm39) |
missense |
unknown |
|
|
R1121:Ap3b2
|
UTSW |
7 |
81,113,943 (GRCm39) |
missense |
unknown |
|
|
R1160:Ap3b2
|
UTSW |
7 |
81,115,917 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1489:Ap3b2
|
UTSW |
7 |
81,113,438 (GRCm39) |
nonsense |
probably null |
|
|
R1542:Ap3b2
|
UTSW |
7 |
81,127,825 (GRCm39) |
splice site |
probably null |
|
|
R1652:Ap3b2
|
UTSW |
7 |
81,123,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1741:Ap3b2
|
UTSW |
7 |
81,117,347 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1872:Ap3b2
|
UTSW |
7 |
81,113,898 (GRCm39) |
missense |
unknown |
|
|
R2065:Ap3b2
|
UTSW |
7 |
81,113,522 (GRCm39) |
missense |
unknown |
|
|
R2353:Ap3b2
|
UTSW |
7 |
81,123,598 (GRCm39) |
unclassified |
probably benign |
|
|
R2354:Ap3b2
|
UTSW |
7 |
81,123,598 (GRCm39) |
unclassified |
probably benign |
|
|
R2398:Ap3b2
|
UTSW |
7 |
81,126,943 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3421:Ap3b2
|
UTSW |
7 |
81,123,598 (GRCm39) |
unclassified |
probably benign |
|
|
R3710:Ap3b2
|
UTSW |
7 |
81,123,598 (GRCm39) |
unclassified |
probably benign |
|
|
R3932:Ap3b2
|
UTSW |
7 |
81,123,598 (GRCm39) |
unclassified |
probably benign |
|
|
R3933:Ap3b2
|
UTSW |
7 |
81,123,598 (GRCm39) |
unclassified |
probably benign |
|
|
R4152:Ap3b2
|
UTSW |
7 |
81,127,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4209:Ap3b2
|
UTSW |
7 |
81,126,884 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4732:Ap3b2
|
UTSW |
7 |
81,121,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4733:Ap3b2
|
UTSW |
7 |
81,121,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4841:Ap3b2
|
UTSW |
7 |
81,127,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5207:Ap3b2
|
UTSW |
7 |
81,126,517 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5659:Ap3b2
|
UTSW |
7 |
81,126,500 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6109:Ap3b2
|
UTSW |
7 |
81,143,340 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R6223:Ap3b2
|
UTSW |
7 |
81,123,210 (GRCm39) |
nonsense |
probably null |
|
|
R6901:Ap3b2
|
UTSW |
7 |
81,134,660 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6981:Ap3b2
|
UTSW |
7 |
81,127,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7061:Ap3b2
|
UTSW |
7 |
81,110,757 (GRCm39) |
missense |
unknown |
|
|
R7317:Ap3b2
|
UTSW |
7 |
81,110,776 (GRCm39) |
missense |
unknown |
|
|
R7501:Ap3b2
|
UTSW |
7 |
81,123,194 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7543:Ap3b2
|
UTSW |
7 |
81,115,894 (GRCm39) |
splice site |
probably null |
|
|
R7643:Ap3b2
|
UTSW |
7 |
81,126,820 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8111:Ap3b2
|
UTSW |
7 |
81,113,530 (GRCm39) |
missense |
unknown |
|
|
R8273:Ap3b2
|
UTSW |
7 |
81,112,990 (GRCm39) |
missense |
unknown |
|
|
R8325:Ap3b2
|
UTSW |
7 |
81,134,237 (GRCm39) |
splice site |
probably null |
|
|
R8355:Ap3b2
|
UTSW |
7 |
81,122,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8697:Ap3b2
|
UTSW |
7 |
81,122,783 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8716:Ap3b2
|
UTSW |
7 |
81,126,901 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8923:Ap3b2
|
UTSW |
7 |
81,126,931 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9002:Ap3b2
|
UTSW |
7 |
81,117,192 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9163:Ap3b2
|
UTSW |
7 |
81,113,546 (GRCm39) |
missense |
unknown |
|
|
R9304:Ap3b2
|
UTSW |
7 |
81,113,019 (GRCm39) |
missense |
unknown |
|
|
R9321:Ap3b2
|
UTSW |
7 |
81,114,252 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9413:Ap3b2
|
UTSW |
7 |
81,127,757 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R9459:Ap3b2
|
UTSW |
7 |
81,123,651 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9746:Ap3b2
|
UTSW |
7 |
81,126,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0013:Ap3b2
|
UTSW |
7 |
81,112,988 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0028:Ap3b2
|
UTSW |
7 |
81,113,512 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATGGCCCCTTCAGGATCTAGAC -3'
(R):5'- TACTTCCACCTAGCGCCTAAGG -3'
Sequencing Primer
(F):5'- TTCAGGATCTAGACCCGGCTC -3'
(R):5'- AGAGGTGGGCGTCATCG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation